Human Molecular Genetics

ARTICLES:

Subramaniam Ganesh, Antonio V. Delgado-Escueta, Toshiro Sakamoto, Maria Rosa Avila, Jesus Machado-Salas, Yoshinobu Hoshii, Takumi Akagi, Hiroshi Gomi, Toshimitsu Suzuki, Kenji Amano, Kishan Lal Agarwala, Yuki Hasegawa, Dong-Sheng Bai, Tokuhiro Ishihara, Tsutomu Hashikawa, Shigeyoshi Itohara, Eain M. Cornford, Hiroaki Niki, and Kazuhiro Yamakawa

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
Hum. Mol. Genet. 2002 11: 1251-1262; doi:10.1093/hmg/11.11.1251 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Subramaniam Ganesh, Antonio V. Delgado-Escueta, Toshimitsu Suzuki, Silvana Francheschetti, Concetta Riggio, Giuiliano Avanzini, Adrian Rabinowicz, Saeed Bohlega, Julia Bailey, Maria E. Alonso, Astrid Rasmussen, Alfredo E. Thomson, Adriana Ochoa, Aurelio J. Prado, Marco T. Medina, and Kazuhiro Yamakawa

Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
Hum. Mol. Genet. 2002 11: 1263-1271; doi:10.1093/hmg/11.11.1263 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chelsee Hewitt, Chu Lee Wu, Gareth Evans, A. Howell, Robert G. Elles, Richard Jordan, Philip Sloan, Andrew P. Read, and Nalin Thakker

Germline mutation of ARF in a melanoma kindred
Hum. Mol. Genet. 2002 11: 1273-1279; doi:10.1093/hmg/11.11.1273 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David A. van Heel, Irina A. Udalova, Arjuna P. De Silva, Dermot P. McGovern, Yoshitaka Kinouchi, Jeremy Hull, Nicholas J. Lench, Lon R. Cardon, Alisoun H. Carey, Derek P. Jewell, and Dominic Kwiatkowski

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-B transcription factors
Hum. Mol. Genet. 2002 11: 1281-1289; doi:10.1093/hmg/11.11.1281 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mario Torrado, Ritu Trivedi, Rina Zinovieva, Irina Karavanova, and Stanislav I. Tomarev

Optimedin: a novel olfactomedin-related protein that interacts with myocilin
Hum. Mol. Genet. 2002 11: 1291-1301; doi:10.1093/hmg/11.11.1291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Reetta Kariola, Tiina E. Raevaara, Karin E. Lönnqvist, and Minna Nyström-Lahti

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome
Hum. Mol. Genet. 2002 11: 1303-1310; doi:10.1093/hmg/11.11.1303 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Irit Gottfried, Marina Landau, Fabian Glaser, Wei-Li Di, Joseph Ophir, Barukh Mevorah, Nir Ben-Tal, David P. Kelsell, and Karen B. Avraham

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
Hum. Mol. Genet. 2002 11: 1311-1316; doi:10.1093/hmg/11.11.1311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rosanna Weksberg, Cheryl Shuman, Oana Caluseriu, Adam C. Smith, Yan-Ling Fei, Joy Nishikawa, Tracy L. Stockley, Lyle Best, David Chitayat, Ann Olney, Elizabeth Ives, Adele Schneider, Timothy H. Bestor, Madeline Li, Paul Sadowski, and Jeremy Squire

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome
Hum. Mol. Genet. 2002 11: 1317-1325; doi:10.1093/hmg/11.11.1317 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Katherine L. Nathanson, Yin Y. Shugart, Romaica Omaruddin, Csilla Szabo, David Goldgar, Timothy R. Rebbeck, and Barbara L. Weber

CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q
Hum. Mol. Genet. 2002 11: 1327-1332; doi:10.1093/hmg/11.11.1327 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

James S. Friedman, Mathieu Faucher, Paul Hiscott, Vincent L. Biron, Mario Malenfant, Pierre Turcotte, Vincent Raymond, and Michael A. Walter

Protein localization in the human eye and genetic screen of opticin
Hum. Mol. Genet. 2002 11: 1333-1342; doi:10.1093/hmg/11.11.1333 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rachel Myerowitz, Douglas Lawson, Hiroki Mizukami, Yide Mi, Cynthia J. Tifft, and Richard L. Proia

Molecular pathophysiology in Tay–Sachs and Sandhoff diseases as revealed by gene expression profiling
Hum. Mol. Genet. 2002 11: 1343-1351; doi:10.1093/hmg/11.11.1343 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Gopalakrishnan Karthikeyan, L. Kevin Lewis, and Michael A. Resnick

The mitochondrial protein frataxin prevents nuclear damage
Hum. Mol. Genet. 2002 11: 1351-1362; doi:10.1093/hmg/11.11.1351 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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